一名患有前脑无裂畸形、22q11.2缺失综合征和条索状卵巢的女孩存在18号染色体长臂等臂染色体。
Isochromosome 18q in a girl with holoprosencephaly, DiGeorge anomaly, and streak ovaries.
作者信息
van Essen A J, Schoots C J, van Lingen R A, Mourits M J, Tuerlings J H, Leegte B
机构信息
Department of Medical Genetics, University of Groningen, The Netherlands.
出版信息
Am J Med Genet. 1993 Aug 1;47(1):85-8. doi: 10.1002/ajmg.1320470117.
PMID:8368259
Abstract
We report on the clinical and pathologic findings in a girl with isochromosome 18q (46, XX,i(18q)) who had combined manifestations of monosomy 18p and trisomy 18q. Major congenital anomalies included premaxillary agenesis, alobar holoprosenphaly, double outlet right ventricle, DiGeorge anomaly and streak ovaries. The clinical spectrum in i(18q) is very broad.
摘要
我们报告了一名患有18号染色体长臂等臂染色体（46, XX, i(18q)）的女孩的临床和病理发现，她同时具有18号染色体短臂单体和18号染色体长臂三体的联合表现。主要先天性异常包括上颌前部发育不全、无脑叶全前脑、右心室双出口、迪乔治综合征和条索状卵巢。18号染色体长臂等臂染色体的临床谱非常广泛。
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